Author

Ruomu Jiang

Helix (United States)

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alexandre BolzeiD· 2 shared Elizabeth T. CirulliiD· 2 shared Joseph J. GrzymskiiD· 2 shared Nicole L. WashingtoniD· 2 shared William J. Metcalf· 2 shared Alexa Anderson· 1 shared Andrew Dei Rossi· 1 shared Catherine A. HajekiD· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 41 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexandre BolzeORCID

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Author profile →

2 papers

Recent·Most cited

Combining rare and common genetic variants improves population risk stratification for breast cancer

Alexandre Bolze, Daniel Kiser, Kelly M. Schiabor Barrett, Gai Elhanan, Jamie M. Schnell Blitstein, Iva Neveux, Shaun Dabe, Harry Reed, Alexa Anderson, William J. Metcalf, Ekaterina Orlova, Ildiko Thibodeau, Natalie Telis, Ruomu Jiang, Nicole L. Washington, , Joseph J. Grzymski

This study evaluates genetic screening approaches for breast cancer risk, finding that combining rare and common variants improves risk stratification.

Genetics in Medicine Open · Jan 1, 2024Peer-reviewedGenetic & Genomic Medicine

A catalog of homoplasmic and heteroplasmic mitochondrial DNA variants in humans

Alexandre Bolze, Fernando Luis Mendez, Simon White, Francisco Tanudjaja, Magnus Isaksson, Ruomu Jiang, Andrew Dei Rossi, Elizabeth T. Cirulli, Misha D. Rashkin, William J. Metcalf, Joseph J. Grzymski, William Lee, James T. Lu, Nicole L. Washington

Allele frequencies for homoplasmic and heteroplasmic mitochondrial variants across 195,983 sequenced genomes leave 47% of the mitochondrial genome invariant and put 42% of reported LHON variants in doubt.

bioRxiv · Jun 26, 2020 · PreprintGenetics